Human Genome Variation Society (HGVS) nomenclature, the Recommendations for the description of sequence variants in DNA, RNA, and protein sequences, is authorized by the Human Genome Organization (HUGO), under the responsibility of the HGVS Variant Nomenclature Committee (HVNC).
The description of a variant is preceded by the use of a prefix (lowercase letter followed by a period) indicating the type of reference sequence used.
RNA reference sequence (r.)
- RNA reference sequences are denoted with r. prefix.
- The RNA reference sequence includes the entire transcript, without the poly A-tail.
- The NC_ or NG_ reference sequences used they are followed by NM_ in parentheses, example NC_(NM_):r. or NG_(NM_):r.
IMPORTANT: Some information inherent in the current consensus of international recommendations has been reported in this brief report. Please consult the guidelines for complete information. Also important to note the words reported on VarNomen: “For additional questions, comments or examples of cases not yet covered, with a suggestion on how to describe them, you can contact VarNomen@HUGO-int.org ” (Find the sites in the bibliography).
Bibliografy
- Den Dunnen et al. 2016, Hum. Mutat. 37:564-569.
- http://www.hgvs.org/content/guidelines
- http://varnomen.hgvs.org/bg-material/refseq/
